Scientists find new treatment for Rett syndrome

Cambridge, February 11: In a groundbreaking study, researchers from the Whitehead Institute for Biomedical Research and MIT's Picower Institute for Learning and Memory in Cambridge, Massachusetts, United States, have discovered two genesdefine that cause autism like symptoms in mice.

The scientists said that the latest discovery might lead to the development of medications that target signaling mechanisms between genesdefine that interact to cause some symptoms of autistic spectrum disorders (ASDs).

For the study, researchers treated laboratory mice with a peptide fragment of IGF1 (a molecule that is utilized by the brain for neuronal and synaptic development) and found that the symptoms of Rett syndrome in the rodents were largely reversed.

"Although the treated mice get better and their symptoms don't progress as fast as they normally would, the treated mice still get the symptoms. So it's definitely not a cure, but it could be a co-therapy," Study researcher Emanuela Giacometti said in a news release issued by the institute.

Rudolf Jaenisch, of Whitehead Institute for Biomedical Research, said, "This is the first realistic way for a drug-like molecule injected into the bloodstream to relieve Rett syndrome symptoms.”

Rett syndrome also known as Rett disorder is a neurodevelopmental disorder found exclusively in females and brings on autism like symptoms. Rett syndrome is a genetic disorder, which is caused by a mutation of the MECP2 gene, which is found on the X chromosome, however, less than 1 percent of recorded cases are inherited. Most cases are sporadic, which means the mutation occurs randomly.

Infants and kids with the disorder generally develop normally until approximately age 6 to 18 months. Then they may stop acquiring new skills and gradually or suddenly lose previously acquired abilities, such as conscious control of the hands and the ability to vocalize most sounds or words. There is no cure for Rett syndrome, and the treatment focuses on the management of symptoms.

The findings of the study appear in the February issue of the Proceedings of the National Academies of Sciences.